Somatic databases for clinical NGS testing

Trusted data to accelerate identify, annotate and interpret cancer mutations

VARIANT ANNOTATION | VUS MANAGEMENT | CLINICAL TRIAL MATCHING

COSMIC and HSMD

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Using COSMIC to predict, identify, and avoid mutational consequences of cancer therapies

Expert-curated databases to enhance the content of your somatic NGS testing workflow

Two expert-curated databases exclusively licensed through QIAGEN, the Catalogue Of Somatic Mutations In Cancer (COSMIC) and the Human Somatic Mutation Database (HSMD), provide clinical NGS testing labs with trusted data to identify and annotate biomarkers, assess their biological and clinical relevance, and support clinical trial matching and molecular tumor board (MTB) recommendations.

Somatic databases for clinical NGS testing

Comprehensive database containing over 24 million genomic variants across 6,800 precise forms of human cancer to explore the effect of somatic mutations in human cancer.

In-depth database providing detailed molecular information on over 1.8 million somatic variants to assesses the clinical and biological relevance of somatic variants across observed tumor types.

COSMIC and HSMD in the clinical NGS testing workflow

Both COSMIC and HSMD can be used to enhance the content of existing somatic NGS testing workflows. If your lab needs an end-to-end variant analysis, interpretation, and reporting workflow, learn more about QCI Interpret for Oncology here.

Developed and maintained by Wellcome Sanger Institute, the latest release, COSMIC v100 (May 2024), includes over 5 million coding mutations across 1.5 million tumor samples, curated from over 29,000 publications. In addition to coding mutations, COSMIC covers all the genetic mechanisms by which somatic mutations promote cancer, including non-coding mutations, gene fusions, copy-number variants and drug-resistance mutations.

  • Integrates somatic data from multiple sources, including the International Cancer Genome Consortium, The Cancer Genome Atlas, gene- and genome-wide screens, clinical trials and therapies.
  • Data is translated into a standardized format and available through downloadable datasets and user-friendly data exploration tools.
  • Every six months, COSMIC content and features are updated to ensure you remain informed on the latest findings.

A relatively new somatic mutation database from QIAGEN (released in 2019), HSMD combines over two decades of expert curation and data from scientific literature, on- and off-label therapies and clinical trials, and real-world clinical oncology cases. In the latest release, HSMD 3.0 (November 2023), the database contains manually curated, detailed molecular information on over 1.8 million somatic variants, with more than 430,000 observed in real clinical cases, as well as data from over 545,000 real-world clinical oncology cases.

  • Contains data from clinically observed variants, meaning QIAGEN’s professional clinical interpretation service (previously N-of-One) has encountered this alteration in a real-world clinical case. 
  • A searchable, web database to explore key genes or mutations with driving properties or clinical relevance and search for associated treatment options, off-label therapies, resistance markers, and regional and/or disease-specific clinical trials.
  • Every three months, HSMD content and features are updated to ensure you remain informed on the latest findings.

Overview of COSMIC and HSMD for clinical NGS testing

COSMIC and HSMD differ in terms of content, curation, function and application. The below graphic provides a high-level overview of the two databases. Whereas COSMIC is a downloadable database best suited for upstream analysis that can be integrated into your pipeline to identify and annotate biomarkers, HSMD is a searchable database best suited for downstream interpretation to validate biomarkers and better assess their biological and clinical relevance.

Request a free trial and personal consultation

COSMIC and HSMD are two expert-curated databases licensed exclusively through QIAGEN that enable clinical NGS testing labs to enhance the content of their informatics workflow.

To learn more about how your bioinformatics and variant scientist team can use COSMIC and HSMD, click the button below for a free trial and personal consultation with our clinical NGS testing experts.

Want to learn more?

Read a white paper on how to use COSMIC Actionability to track the progress of ERBB2-targeted therapies
READ WHITE PAPER
In this case study, learn how the Institute for Oncology and Radiology of Serbia uses HSMD to annotate somatic variants faster
READ CASE STUDY
In this webinar on March 7, 2024, learn how to use COSMIC to avoid mutational consequences in cancer therapies
REGISTER NOW
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